March 2015 - Surgery
VACTERL association is a statistically nonrandom co-occurrence of a group of congenital malformations:
vascular anomalies, vertebral defects, anal atresia, cardiac malformations, tracheo-esophageal fistula with esophageal atresia, radial and renal dysplasia, and limb anomalies. Generally the presence of at least 3 component features is required for a diagnosis. Such patients have very complex medical and surgical needs.1 Here we describe a case of a patient born with persistent cloaca (Figure 1), a feature of VACTERL association, who underwent surgical procedures at University of Minnesota Masonic Children’s Hospital to restore urinary and fecal continence, with very positive outcomes.
A female neonate was born at term and was noted to have an anorectal malformation. She was subsequently transferred to University of Minnesota Masonic Children’s Hospital and determined to have a persistent cloaca and VACTERL association. The patient underwent a colostomy when she was just a few hours old.
To manage her cloaca, a number of staged procedures were performed with the goal of achieving fecal and urinary continence. Prior to her first birthday, the patient underwent a complex reconstructive procedure with a pediatric surgical and pediatric urologic team in which a neoanus and vagina were constructed. She subsequently underwent an ostomy takedown. At the age of 4 years, she underwent a Mitrofanoff procedure in which a small portion of the ileum was detached from the small intestine and relocated to the bladder and to the umbilicus, allowing the bladder to be catheterized through the stoma. She also underwent an antegrade colonic enema (ACE) procedure in which a segment of appendix was used to create a continent catheterizable stoma leading to the colon. The patient recovered from these procedures without sequelae.
By 5 years of age, the girl was able to attend school in underwear without soiling and to participate in swimming at the public pool. The patient and family have reported a dramatically improved quality of life.
Anorectal malformations affect about 1 in 2,500 to 1 in 5,000 newborns. Children with anorectal malformations often have poor quality of life, in part due to fecal and urinary incontinence and resulting social isolation. 2 Procedures to restore continence can significantly improve quality of life.3, 4 For example, in one study of 32 patients who had undergone the ACE procedure, all patients but one perceived a significant improvement in their quality of life after the procedure.5
1. Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis. 2011;6:56.
2. Grano C, et al. Quality of life in children and adolescents with anorectal
malformation. Pediatr Surg Int. 2013;29(9):925-930.
3. Yerkes EB et al. The Malone antegrade continence enema procedure:
quality of life and family perspective. J Urol. 2003;169(1):320-323.
4. Smith GM, et al. Health-related quality of life in patients reliant upon
mitrofanoff catheterisation. Eur J Pediatr Surg. 2011;21(4):263-265.
5. Tiryaki S, et al. Success of Malone’s antegrade continence enema (MACE)
from the patients’ perspective. Eur J Pediatr Surg. 2010;20(6):405-407.
March 2015 - Surgery
Birth defects are the leading cause of mortality and morbidity in children. Advanced surgical options and a team approach have improved quality of life for children with these conditions.Continue reading